L18M (p.Leu18Met) variant of BRAF (P15056)
L18M (p.Leu18Met) in BRAF (P15056) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- TOPMed rs1222192591
- gnomAD rs1222192591
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- MetaLR 0.24
- MetaSVM -0.73
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score 0.0742